A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161340



Internal ID19304191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:16658386..16661796hg38UCSC Ensembl
Outerchr6:16654728..16663824hg38UCSC Ensembl
Innerchr6:16658617..16662027hg19UCSC Ensembl
Outerchr6:16654959..16664055hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg389097
hg199097
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4034221
Samples
Known GenesATXN1
MethodSNP array
Analysis1) We applied common software Birdsuite to detect genome-wide CNVs; 2) we used our algorithm WinXPCNVer which is based on probe intensity to identify Tibetan specific CNV; 3) we further genotyped the discovered Tibetan specific CNV by K-means and manual observation.
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceLou_et_al_2015
Pubmed ID26073780
Accession Number(s)nsv1161340
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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